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Pyridoxine‐Responsive Primary Acquired Sideroblastic Anaemia
Author(s) -
Meier Peter J.,
Fehr Jürg,
Meyer Urs A.
Publication year - 1982
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1982.tb00617.x
Subject(s) - pyridoxine , sideroblastic anemia , atp synthase , incubation , pyridoxal phosphate , pyridoxal , biochemistry , chemistry , primary (astronomy) , heme , enzyme , cofactor , gene , physics , astronomy
The activity of 5‐aminolaevulinate (ALA) synthase, the first and rate‐limiting of haem synthesis, was markedly reduced (13 % of controls) in erythroblasts of a patient with acquired, primary sideroblastic anaemia (PASA). The reduced activity of ALA synthase could not be restored in vitro with 1 mmol/1 pyridoxal‐5‐phosphate (PLP). Treatment of the patient with pyridoxine for several months increased the ALA synthase activity from 13 % to 50% of controls in the absence and to 100% in the presence of PLP in the incubation medium. These studies suggest that both increased degradation of apo‐ALA synthase and decreased affinity of ALA synthase for PLP may be involved in pyridoxine‐responsive PASA.